view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE11A_chr2_177618244_178077777 | 177660084 | TTTCTTTC others(41): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0153 | 1 | 168 | 0.0060 | -48 | c.264 others(67): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177853652 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02615.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0026a0001c0003t0058a0001c0005t0026others(1): Show | a0001c0001t0026g0067 a0001c0003t0058g0066 a0001c0005t0026g0019 others(1): Show |
4 | 168 | 0.0238 | -48 | c.136 others(69): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177945789 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0140 | 1 | 168 | 0.0060 | -48 | c.107 others(69): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135934966 | TATTTCTC others(41): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 140 | 0.0071 | -48 | c.22- others(65): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42670372 | ACACACAT others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0027 others(115): Show |
119 | 322 | 0.3696 | -48 | c.70- others(65): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 344 | 0.0029 | -48 | c.-39 others(59): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985078 | TATTTATT others(41): Show |
T | intron_variant | MODIFIER | NA18973.hp1 NA18990.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0002t0001 | a0001c0001t0002g0049 a0001c0001t0015g0165 a0001c0002t0001g0075 |
3 | 94 | 0.0319 | -48 | c.510 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104118805 | ATATAATA others(41): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0035 others(59): Show |
62 | 198 | 0.3131 | -48 | c.124 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402614 | TATATACT others(41): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02897.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0002g0155 others(1): Show |
4 | 206 | 0.0194 | -48 | c.844 others(69): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18106278 | TGTGGTTC others(41): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0027a0001c0001t0150others(1): Show | a0001c0001t0014g0043 a0001c0001t0014g0138 a0001c0001t0014g0140 others(3): Show |
9 | 393 | 0.0229 | -48 | c.*18 others(61): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 883 | chr22 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106457 | CGAGAGCT others(41): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0001 | 1 | 394 | 0.0025 | -48 | c.*18 others(61): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1062 | chr22 | TogoVar | |||||||
PFKL_chr21_44295053_44332373 | 44331396 | TGGGAGGC others(41): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 390 | 0.0026 | -48 | c.*45 others(59): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 4024 | chr21 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3084693 | CAGTCCTC others(41): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00738.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(13): Show | a0001c0001t0002g0007 a0001c0001t0002g0201 a0001c0001t0002g0205 others(28): Show |
31 | 142 | 0.2183 | -48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084727 | GCCCCTCC others(41): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0191 | 1 | 400 | 0.0025 | -48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084945 | TTCCCTCC others(41): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0023 | a0001c0023t0017 | a0001c0023t0017g0255 | 1 | 228 | 0.0044 | -48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691927 | ACATATAC others(41): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 374 | 0.0027 | -48 | c.-39 others(59): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3871 | chr17 | TogoVar | |||||||
PGC_chr6_41731711_41752397 | 41738143 | TGCATATA others(41): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 462 | 0.0022 | -48 | c.916 others(63): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482596 | CTTCCTTC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0044 | 1 | 378 | 0.0026 | -48 | c.-32 others(59): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3096 | chr19 | TogoVar | |||||||
PGP_chr16_2206593_2219840 | 2216077 | TACAGGCG others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 450 | 0.0022 | -48 | c.-13 others(59): Show |
PGP | ENSG00000184207.9 | transcript | ENST00000333503.8 | protein_coding | 1238 | chr16 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13064570 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0088 a0001c0001t0002g0009 a0001c0001t0002g0030 others(2): Show |
5 | 108 | 0.0463 | -48 | c.415 others(67): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771146 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0155 | 1 | 303 | 0.0033 | -48 | c.123 others(67): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHKG1_chr7_56075295_56097952 | 56087985 | CCGTGTGA others(41): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0044 | 2 | 416 | 0.0048 | -48 | c.84- others(61): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
PHKG1_chr7_56075295_56097952 | 56095817 | ATTACAGG others(41): Show |
A | upstream_gene_variant | MODIFIER | NA18971.hp2 NA19083.hp1 NA19084.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 a0001c0003t0002g0010 |
3 | 416 | 0.0072 | -48 | c.-30 others(59): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 2866 | chr7 | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(41): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0108 |
2 | 137 | 0.0146 | -48 | c.95+ others(61): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30749046 | GTGGTGGT others(41): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0023 a0002c0002t0008g0023 |
2 | 168 | 0.0119 | -48 | c.95+ others(61): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30749076 | GTGGTGGT others(41): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0055 a0001c0001t0003g0056 |
2 | 223 | 0.0090 | -48 | c.95+ others(61): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01516.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0009others(2): Show | a0001c0001t0001g0259 a0001c0001t0001g0297 a0001c0001t0011g0157 others(4): Show |
7 | 150 | 0.0467 | -48 | c.*51 others(59): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139009 | AAGAAAGA others(41): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 250 | 0.0040 | -48 | c.177 others(67): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720397 | GTGTGTGT others(41): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0020 | a0020c0066 | a0020c0066t0002 | a0020c0066t0002g0119 | 1 | 152 | 0.0066 | -48 | c.503 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10795314 | ATATTTTA others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG02486.hp2 others(2): Show |
a0002a0008a0009others(1): Show | a0002c0001a0008c0014a0009c0034others(1): Show | a0002c0001t0001a0002c0001t0005a0008c0014t0002others(2): Show | a0002c0001t0001g0121 a0002c0001t0005g0095 a0008c0014t0002g0009 others(2): Show |
5 | 76 | 0.0658 | -48 | c.152 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 579427 | CCTAGAGG others(41): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0052 | 1 | 260 | 0.0038 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579526 | AGAGGTGC others(41): Show |
A | intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0130 | 1 | 406 | 0.0025 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579574 | TGAGGTGC others(41): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0022a0002c0001others(4): Show | a0001c0002t0002a0001c0022t0002a0002c0001t0001others(4): Show | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 others(55): Show |
100 | 296 | 0.3378 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579646 | AGAGGTGC others(41): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02698.hp1 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0006 | a0003c0003t0003g0076 a0003c0003t0006g0082 |
2 | 405 | 0.0049 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631741 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 303 | 0.0033 | -48 | c.529 others(65): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17181621 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0028 a0001c0003t0004g0076 |
2 | 291 | 0.0069 | -48 | c.-65 others(67): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650702 | GTGTATAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01884.hp2 HG02055.hp2 |
a0001a0003a0006 | a0001c0037a0003c0020a0006c0007 | a0001c0037t0002a0003c0020t0001a0006c0007t0002 | a0001c0037t0002g0172 a0003c0020t0001g0029 a0006c0007t0002g0005 |
3 | 155 | 0.0194 | -48 | c.*26 others(59): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2287 | chr12 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650704 | GTATATAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03540.hp2 |
a0002a0009a0015 | a0002c0002a0009c0046a0015c0030 | a0002c0002t0001a0009c0046t0001a0015c0030t0002 | a0002c0002t0001g0121 a0009c0046t0001g0043 a0015c0030t0002g0176 |
3 | 113 | 0.0265 | -48 | c.*26 others(59): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2289 | chr12 | TogoVar | |||||||
PIK3C3_chr18_41950234_42092830 | 42054126 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG02056.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 a0001c0001t0004g0024 |
2 | 54 | 0.0370 | -48 | c.226 others(67): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22664106 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0172 a0001c0007t0002g0173 |
2 | 204 | 0.0098 | -48 | c.144 others(67): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67674522 | ATTTAGGA others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0086 others(169): Show |
172 | 216 | 0.7963 | -48 | c.619 others(63): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22361090 | AGAAGGAA others(41): Show |
A | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 294 | 0.0034 | -48 | c.*55 others(59): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 3523 | chr8 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109341776 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01192.hp1 NA18998.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0111 a0003c0003t0002g0299 |
2 | 344 | 0.0058 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109341787 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG00741.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0002a0003c0003t0021others(1): Show | a0001c0001t0003g0009 a0003c0003t0002g0059 a0003c0003t0002g0061 others(5): Show |
8 | 344 | 0.0233 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109341825 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02148.hp2 HG02602.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0052 a0003c0003t0002g0071 a0003c0003t0002g0079 others(2): Show |
5 | 344 | 0.0145 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109342056 | GTCAGCCC others(41): Show |
G | intron_variant | MODIFIER | NA18956.hp1 NA18998.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0111 a0003c0003t0002g0298 |
2 | 344 | 0.0058 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109342099 | GGGGATGT others(41): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01346.hp1 HG01981.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0021 | a0003c0003t0002g0054 a0003c0003t0002g0059 a0003c0003t0002g0085 others(4): Show |
7 | 342 | 0.0205 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109342474 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063 | 1 | 344 | 0.0029 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100315001 | AGGAAGGA others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0069 |
2 | 150 | 0.0133 | -48 | c.349 others(67): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32858087 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01981.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0242 a0002c0002t0005g0046 a0002c0002t0005g0047 others(1): Show |
4 | 340 | 0.0118 | -48 | c.117 others(67): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar |